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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:syndromic X-linked intellectual disability Cabezas type
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Accession:DOID:0060822 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24. (DO)
Synonyms:exact_synonym: Cabezas X-Linked Mental Retardation Syndrome;   Cabezas syndrome;   Cabezas syndrome; syndromic X-linked mental retardation 15;   MRSS;   MRXS15;   MRXSC;   X-linked mental retardation with brachydactyly and macroglossia;   X-linked mental retardation with short stature;   X-linked mental retardation with short stature, hypogonadism, and abnormal gait;   X-linked mental retardation with short stature, small testes, muscle wasting, and tremor;   mental retardation, X-linked, syndromic 15 (Cabezas type);   syndromic X-linked intellectual developmental disorder, Cabezas type;   syndromic X-linked mental retardation 15;   syndromic X-linked mental retardation, Cabezas type
 broad_synonym: CUL4B-related condition;   CUL4B-related disorder
 xref: GARD:13244;   MESH:C564527;   MESH:C567069;   MIM:300354;   MONDO:0010306;   NCI:C167216;   ORDO:85293


show annotations for term's descendants           Sort by:
syndromic X-linked intellectual disability Cabezas type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap14 A-kinase anchoring protein 14 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,261,195...121,276,376
Ensembl chr  X:121,259,899...121,276,376 		JBrowse link
G Atp1b4 ATPase Na+/K+ transporting family member beta 4 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,952,923...121,974,146
Ensembl chr  X:121,923,061...121,973,654 		JBrowse link
G C1galt1c1 C1GALT1-specific chaperone 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:122,243,736...122,248,217
Ensembl chr  X:122,234,454...122,248,422 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: CUL4B-related condition | ClinVar Annotator: match by term: CUL4B-related disorder | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 OMIM
ClinVar		 PMID:8135271 PMID:9536098 PMID:10978355 PMID:17236139 PMID:17273978 More... NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:122,154,332...122,192,299 		JBrowse link
G Dock11 dedicator of cytokinesis 11 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:119,997,523...120,180,643
Ensembl chr  X:119,997,552...120,180,634 		JBrowse link
G Il13ra1 interleukin 13 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:120,213,670...120,294,777
Ensembl chr  X:120,214,075...120,274,461 		JBrowse link
G Kiaa1210 KIAA1210 homolog ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,675,412...115,725,950
Ensembl chr  X:120,541,613...120,591,902 		JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:122,038,734...122,087,745
Ensembl chr  X:121,922,187...122,087,675 		JBrowse link
G Lonrf3 LON peptidase N-terminal domain and ring finger 3 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,565,214...115,603,886
Ensembl chr  X:120,430,996...120,464,572 		JBrowse link
G Mcts1 MCTS1, re-initiation and release factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:122,215,602...122,228,101
Ensembl chr  X:122,216,439...122,229,631 		JBrowse link
G Ndufa1 NADH:ubiquinone oxidoreductase subunit A1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,289,904...121,293,555
Ensembl chr  X:121,289,925...121,293,555 		JBrowse link
G Nkap NFKB activating protein ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,238,714...121,258,360
Ensembl chr  X:121,238,404...121,261,238 		JBrowse link
G Nkrf NFKB repressing factor ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,126,341...116,144,554
Ensembl chr  X:120,992,038...121,010,251 		JBrowse link
G Pgrmc1 progesterone receptor membrane component 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:120,698,610...120,706,805
Ensembl chr  X:120,698,610...120,706,805 		JBrowse link
G Rhoxf13 Rhox homeobox family member 13 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,776,875...121,783,406
Ensembl chr  X:121,776,875...121,783,406 		JBrowse link
G Rhoxf2b Rhox homeobox family member 2B ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,507,488...116,514,240
Ensembl chr  X:121,373,165...121,379,545 		JBrowse link
G Rnf113a1 ring finger protein 113A1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,293,621...121,294,844
Ensembl chr  X:121,292,881...121,407,787 		JBrowse link
G Rpl39 ribosomal protein L39 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,327,216...116,330,211
Ensembl chr 7:31,721,884...31,722,039
Ensembl chr15:31,721,884...31,722,039
Ensembl chr  X:31,721,884...31,722,039 		JBrowse link
G Septin6 septin 6 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,153,255...116,230,334
Ensembl chr  X:121,018,944...121,095,792 		JBrowse link
G Slc25a43 solute carrier family 25, member 43 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,977,437...116,011,789
Ensembl chr  X:120,843,243...120,877,515 		JBrowse link
G Slc25a5 solute carrier family 25 member 5 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:120,897,616...120,900,683
Ensembl chr  X:120,897,563...120,900,688 		JBrowse link
G Sowahd sosondowah ankyrin repeat domain family member D ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,292,030...116,293,660
Ensembl chr  X:121,157,720...121,159,342 		JBrowse link
G Steep1 STING1 ER exit protein 1 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,087,626...116,114,159
Ensembl chr  X:120,926,647...120,979,861 		JBrowse link
G Tmem255a transmembrane protein 255A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,970,793...117,035,008
Ensembl chr  X:121,836,341...121,900,727 		JBrowse link
G Ube2a ubiquitin-conjugating enzyme E2A ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:120,979,993...120,990,773
Ensembl chr  X:120,978,790...120,990,750 		JBrowse link
G Upf3b UPF3B, regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:121,200,993...121,219,059
Ensembl chr  X:121,200,993...121,218,921 		JBrowse link
G Zbtb33 zinc finger and BTB domain containing 33 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:116,963,337...116,970,547
Ensembl chr  X:121,828,952...121,839,399 		JBrowse link
G Zcchc12 zinc finger CCHC-type containing 12 ISO ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Cabezas type ClinVar PMID:17236139 PMID:17704778 PMID:19238151 PMID:25385192 PMID:28492532 NCBI chr  X:115,433,444...115,436,691
Ensembl chr  X:120,298,652...120,302,614 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Pathologic Processes 8430
        Growth Disorders 1032
          syndromic X-linked intellectual disability Cabezas type 28
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              developmental disorder of mental health 5679
                specific developmental disorder 4650
                  intellectual disability 4415
                    X-Linked Intellectual Developmental Disorders 829
                      syndromic X-linked intellectual disability 621
                        syndromic X-linked intellectual disability Cabezas type 28
paths to the root